Parkinsonism in Association with Dihydropteridine Reductase Deficiency

Yoshiaki Takahashi; Yasuhiro Manabe; Yumiko Nakano; Taijun Yunoki; Syoichiro Kono; Hisashi Narai; Mahoko Furujo; Koji Abe

doi:10.1159/000456610

Parkinsonism in Association with Dihydropteridine Reductase Deficiency

Yoshiaki Takahashi, Yasuhiro Manabe, Yumiko Nakano, Taijun Yunoki, Syoichiro Kono, Hisashi Narai, Mahoko Furujo, Koji Abe

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

Abstract

We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HTP) supplementation from the age of 2 months. Brain MRI showed high intensity areas in bilateral frontal and posterior deep white matter on fluid-attenuated inversion recovery (FLAIR). Coronal FLAIR image showed a high signal in bilateral pyramidal tracts. Single photon computed tomography (SPECT) imaging of the dopamine transporter was normal. This imaging indicates no dopaminergic cell loss. Our patient had no motor fluctuations or dyskinesias. Early diagnosis and replacement treatment might lead to a favorable outcome.

Original language	English
Pages (from-to)	17-21
Number of pages	5
Journal	Case Reports in Neurology
Volume	9
Issue number	1
DOIs	https://doi.org/10.1159/000456610
Publication status	Published - Jan 6 2017

Keywords

Dihydropteridine reductase deficiency
Dopamine transporter
Hyperphenylalaninemia
Levodopa
Parkinsonism
SPECT

ASJC Scopus subject areas

Clinical Neurology

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10.1159/000456610

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title = "Parkinsonism in Association with Dihydropteridine Reductase Deficiency",

abstract = "We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HTP) supplementation from the age of 2 months. Brain MRI showed high intensity areas in bilateral frontal and posterior deep white matter on fluid-attenuated inversion recovery (FLAIR). Coronal FLAIR image showed a high signal in bilateral pyramidal tracts. Single photon computed tomography (SPECT) imaging of the dopamine transporter was normal. This imaging indicates no dopaminergic cell loss. Our patient had no motor fluctuations or dyskinesias. Early diagnosis and replacement treatment might lead to a favorable outcome.",

keywords = "Dihydropteridine reductase deficiency, Dopamine transporter, Hyperphenylalaninemia, Levodopa, Parkinsonism, SPECT",

author = "Yoshiaki Takahashi and Yasuhiro Manabe and Yumiko Nakano and Taijun Yunoki and Syoichiro Kono and Hisashi Narai and Mahoko Furujo and Koji Abe",

note = "Funding Information: We are very grateful to Professor I. Hargittai for his interest in this work. The experimental work by Mrs Maria Kolonits is gratefully acknowledged. This study was carried out with financial support from the Russian Foundation of Fundamental Research (93-03-4410). The research described in this publication was made possible in part by Grant No. MQX000 from the International Funding Information: Science Foundation. This work has received support from the Norwegian Supercomputer Committee (TRU) through a grant of computing time. Publisher Copyright: {\textcopyright} 2017 The Author(s)Published by S. Karger AG, Basel.",

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AU - Takahashi, Yoshiaki

AU - Manabe, Yasuhiro

AU - Nakano, Yumiko

AU - Yunoki, Taijun

AU - Kono, Syoichiro

AU - Narai, Hisashi

AU - Furujo, Mahoko

AU - Abe, Koji

N1 - Funding Information: We are very grateful to Professor I. Hargittai for his interest in this work. The experimental work by Mrs Maria Kolonits is gratefully acknowledged. This study was carried out with financial support from the Russian Foundation of Fundamental Research (93-03-4410). The research described in this publication was made possible in part by Grant No. MQX000 from the International Funding Information: Science Foundation. This work has received support from the Norwegian Supercomputer Committee (TRU) through a grant of computing time. Publisher Copyright: © 2017 The Author(s)Published by S. Karger AG, Basel.

PY - 2017/1/6

Y1 - 2017/1/6

N2 - We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HTP) supplementation from the age of 2 months. Brain MRI showed high intensity areas in bilateral frontal and posterior deep white matter on fluid-attenuated inversion recovery (FLAIR). Coronal FLAIR image showed a high signal in bilateral pyramidal tracts. Single photon computed tomography (SPECT) imaging of the dopamine transporter was normal. This imaging indicates no dopaminergic cell loss. Our patient had no motor fluctuations or dyskinesias. Early diagnosis and replacement treatment might lead to a favorable outcome.

AB - We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HTP) supplementation from the age of 2 months. Brain MRI showed high intensity areas in bilateral frontal and posterior deep white matter on fluid-attenuated inversion recovery (FLAIR). Coronal FLAIR image showed a high signal in bilateral pyramidal tracts. Single photon computed tomography (SPECT) imaging of the dopamine transporter was normal. This imaging indicates no dopaminergic cell loss. Our patient had no motor fluctuations or dyskinesias. Early diagnosis and replacement treatment might lead to a favorable outcome.

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Parkinsonism in Association with Dihydropteridine Reductase Deficiency

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Keywords

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